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. Author manuscript; available in PMC: 2022 Sep 1.
Published in final edited form as: Prog Pediatr Cardiol. 2021 Jul 1;62:101413. doi: 10.1016/j.ppedcard.2021.101413

Table 3 –

Genetic etiology of arrhythmogenic cardiomyopathy

Gene Protein Chr Mode of inheritance Pediatric frequency OMIM Reference
DES Desmin 2q35 AD ~3% 125660 115
DSC2 Desmocollin 2 18q 12 AD, AR ~3% 125645 74, 94, 106, 115
DSG2 Desmoglein 2 18q12-q12 AD ~10% 125671 74, 94, 106, 115
DSP Desmoplakin 6p24 AD, AR ~6–13% 125647 74, 106, 115
JUP Plakoglobin 17q21 AD, AR Rare 173325 74, 94, 115
LMNA Lamin A/C 1q22 AD ~10% 150330 95, 107, 115
PKP2 Plakophilin 2 12p 11 AD 30–45% 602861 94, 106, 113, 115
PLN Phospholamban 6q22 AD Rare 172405 115
TMEM43 Transmembrane protein 43 3p25 AD Rare 612048 106, 115

AD, autosomal dominant; AR, autosomal recessive; XD, X-linked dominant; XL, X-linked; XR, X-linked recessive